International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)


POSTER 243 - NEW MOUSE MODELS OF HUMAN DISEASE:  THE CENTER FOR MOUSE MODELS OF HEART, LUNG, BLOOD, AND SLPPE DISORDERS AT THE JACKSON LABORATORY

Karen L. Svenson
The Jackson Laboratory
600 Main street
Bar Harbor
ME 04609
USA

Co-Authors: Paigen B, OBrien TP, Bult CJ, Peters LL
Institutions: The Jackson Laboratory

Mouse models of human disease provide invaluable research tools for understanding biological pathways and disease processes. With genome sequence available, there is a pressing need to generate additional models and apply high-throughput screening to detect mutations altering functional pathways.  However, the spontaneous mutation rate in mice is very low, and many phenotypes are not detected in routine colony maintenance because they are not visible.  Moreover, targeted mutagenesis requires prior knowledge of gene structure.  To overcome these problems and link both QTL and single-gene mutations to gene function and dissect genetic variation underlying cardiovascular, lung, hematopoietic, and sleep dysfunction, we have established a Center for Mouse Models of Heart, Lung, Blood and Sleep Disorders at The Jackson Laboratory.  Through comprehensive phenotypic screening of common inbred mouse strains and ENU-generated mutant mice, we will identify genetic mechanisms influencing the physiology and pathophysiology of these disorders.  All proven mutants and data generated by this effort will be freely available to the scientific community


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